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Table 2 Other major extracutaneous complications of epidermolysis bullosa

From: Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

Tissue/organ/system

Major complications

EB type/subtype*

Gastrointestinal tract

Pyloric atresia

JEB-PA, EBS-PA

Esophageal stenosis/strictures/web formation

RDEB-SG, RDEB-I, KS, RDEB-O

Chronic constipation/fecal impaction

RDEB-SG, RDEB-I, RDEB-O, DDEB, JEB-H, JEB-nH, EBS-DM, EBS-MD

Gastroesophageal reflux disease

RDEB, JEB-nH, EBS-DM, EBS-MD, JEB-PA, JEB-H, DDEB

Anal fissures/stenosis

RDEB-SG, RDEB-I, RBED-O, KS

Protein-loosing enteropathy

JEB-PA, EBS-PA, JEB-H, JEB-nH

Colitis/diarrhea

KS, RDEB, JEB-PA

Genitourinary tract

Urethral strictures, meatal stenosis

JEB-H, RDEB-SG, JEB-PA, JEB-nH, LOC, KS

Genitourinary malformations, ureteral/ureterovesical junction obstruction/stenosis, recurrent cystitis

JEB-PA, EBS-PA

Vulvar/vaginal scarring/strictures

RDEB-I, KS

Renal failure

RDEB-SG, JEB-PA, JEB-nH

Upper respiratory tract

Tracheolaryngeal stenosis/acute respiratory failure

JEB-H, LOC, EBS-MD, lethal acantholytic EB, EBS-DM

Musculoskeletal system

Osteopenia and osteoporosis

RDEB-SG, RDEB-O, JEB-nH

Limb flexion contractures

RDEB-SG

Digit contractures/pseudosyndactyly

RDEB-SG, RDEB-O, RDEB-I, KS

Mitten deformities

RDEB-SG

Muscular dystrophy

EBS-MD, EBS-PA

Hematopoietic system

Multifactorial anemia

RDEB-SG, JEB-H, JEB-PA, EBS-PA, JEB-nH, EBS-AR, EBS-DM, RDEB-O

Heart

Dilated cardiomyopathy

RDEB-SG, JEB-nH, EBS-MD

Endocrine

Delayed puberty, amenorrhea

RDEB-SG, RDEB-O

Systemic complications

Sepsis

JEB-H, JEB-nH, RDEB-SG, EBS-DM

Failure to thrive, growth retardation

JEB-H, JEB-PA, EBS-PA, RDEB-SG, JEB-nH, RDEB-O, EBS-AR, EBS-DM, RDEB-I

  1. *The EB types and subtypes which present a higher frequency of a given complication are listed first.
  2. EBS, epidermolysis bullosa simplex; EBS-PA, EBS with pyloric atresia; EBS-DM, EBS, Dowling-Meara; EBS-MD, EBS with muscular dystrophy; EBS-AR, EBS, autosomal recessive; EBS-PD, plakophilin deficiency; EBS-O, EBS, generalized other; JEB, junctional epidermolysis bullosa; JEB-H, JEB, Herlitz; JEB-nH, JEB, non-Herlitz; JEB-PA, JEB with pyloric atresia; LOC, laryngo-onycho-cutaneous syndrome; DEB, dystrophic epidermolysis bullosa; DDEB, dominant DEB; DDEB-G, DDEB, generalized; RDEB,recessive DEB; RDEB-SG, recessive DEB, severe generalized; RDEB-O, recessive DEB, generalized other; RDEB-I, recessive DEB, inversa; DEB-Pr, DEB, pruriginosa; DEB-Pt, pretibial DEB; KS, Kindler syndrome.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172